ErkrankungGliedergürtel-Muskeldystrophie, autosomal dominant; Differentialdiagnose

NGS +

Heterogene Gruppe von Muskeldystrophien mit proximaler Schwäche im Becken- + Schultergürtel; bei bestimmten Formen kardiale + respiratorische Beeinträchtigung

• Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Cardiomyopathy, dilated, 1HH (BAG3)
• Allelic: Cardiomyopathy, dilated, 1I (DES)
• Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
• Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
• Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
• Allelic: Cataract 16, multiple types (CRYAB)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Creatine phosphokinase, elevated serum (CAV3)
• Allelic: Dystonia 27 (COL6A3)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Immunodeficiency 10 (STIM1)
• Allelic: Immunodeficiency 9 (ORAI1)
• Allelic: King-Denborough syndrome (RYR1)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Myopathy, distal, 4 (FLNC)
• Allelic: Myopathy, distal, Tateyama type (CAV3)
• Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
• Allelic: Myosclerosis, congenital (COL6A2)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
• Allelic: Stormorken syndrome (STIM1)
• Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
• Central core disease (RYR1)
• Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Emery-Dreifuss muscular dystrophy 5, AD (SYNE2)
• Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
• Limb-Girdle Muscular Dystrophy [panelapp] (LMNA)
• Limb-girdle muscular dystrophy, LGMD1R (LMNA)
• Muscular dystrophy, limb-girdle, AD 3 (HNRNPDL)
• Muscular dystrophy, limb-girdle, autosomal dominant 2 (TNPO3)
• Muscular dystrophy, limb-girdle, type 1A (MYOT)
• Muscular dystrophy, limb-girdle, type 1C (CAV3)
• Muscular dystrophy, limb-girdle, type 1E (DNAJB6)
• Muscular dystrophy, limb-girdle, type 1G (HNRNPDL)
• Muscular dystrophy, limb-girdle, type 2A (CAPN3)
• Muscular dystrophy, limb-girdle, type 2R (DES)
• Muscular dystrophy-dystroglycanopathy, cong. with impaired intell. development, type B, 15 (DPM3)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 15 (DPM3)
• Myopathy, myofibrillar, 1 (DES)
• Myopathy, myofibrillar, 2 (CRYAB)
• Myopathy, myofibrillar, 5 (FLNC)
• Myopathy, myofibrillar, 6 (BAG3)
• Myopathy, tubular aggregate, 1 (STIM1)
• Myopathy, tubular aggregate, 2 (ORAI1)
• Myopathy, vacuolar, with CASQ1 aggregates (CASQ1)
• Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Rippling muscle disease (CAV3)
• Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)